ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg) (rs1022266595)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554096 SCV000623336 uncertain significance Bloom syndrome 2017-04-04 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1408 of the BLM protein (p.Pro1408Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BLM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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